نتایج جستجو برای: استیوپتروز osteopetrosis
تعداد نتایج: 909 فیلتر نتایج به سال:
Albers-Schönberg disease, or autosomal dominant osteopetrosis type II, is the most common form of the rare disease, osteopetrosis. Mandibular osteomyelitis is a rare complication of the disease. A host of other skeletal complications may also occur. Mandibular osteomyelitis along with bilateral severe coxa vara and pars fracture is very rare in Albers-Schönberg disease. We present the occurrenc...
Osteopetrosis is a heritable bone condition featuring increased bone density due to defective osteoclastic bone resorption. Exome sequencing and Sanger sequencing were conducted in Han Chinese family members, some of whom had typical osteopetrosis, and a novel missense variant c.2350A>T (p.R784W) in the chloride channel 7 gene (CLCN7) was identified. This variant cosegregated with the disorder ...
Albers-Schönberg disease, or autosomal dominant osteopetrosis, type II (ADO II), is the most common form of osteopetrosis, a group of conditions characterized by an increased skeletal mass due to impaired bone and cartilage resorption. Following the assignment of the gene causing ADO II to chromosome 16p13.3, we now report seven different mutations in the gene encoding the ClCN7 chloride channe...
Two patients with osteopetrosis were studied in whom severe stenosis of one or both internal carotid arteries was demonstrated. One patient had autosomal dominant osteopetrosis and the other patient had the autosomal recessive form of the disease. In one patient, probable occlusion of one internal jugular vein and retrograde thrombosis of the contributing dural venous sinuses was present. Venou...
Background : Pulmonary alveolar microlithiasis is a rare condition characterized by a diffuse bilateral filling of the majority of alveoli by calcific concretions called calcospherits. The etiology and pathogenesis are obscure. Osteopetrosis is a heterogenous group of heritable conditions with defect in bone resorption by osteoclasts. Materials & Methods: We report a case of pulmonary alveola...
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